Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
キーワード
概要
説明
Neuronal Ceroid Lipofuscinosis (NCL) is the most common neurodegenerative disorder in children characterized by seizures, blindness, ataxia, myoclonia and loss of cognition. There are 12 clinical types identified with a concurrent genetic abnormality. The diagnosis is determined by gene testing and skin biopsy findings although genetic testing has supplanted skin biopsy in most cases. Numberous studies have confirmed the presence of sleep disorder in patients with NCL but these cases were documented over a decade ago. The investigators would like to study the prevalence of sleep disorders in this group of patients. The investigators will distribute a Children's Sleep Habits Questionnaire (CSHQ) to the family of the patient to complete and provide a information regarding the patient's sleep. In addition to the validated sleep questionnaire a separate demographic questionnaire will be given to the family to identify the type of NCL, presence or absence of blindness, presence or absence of seizures, interventions tried to treat sleep disturbance. The last questions of the study are asking for the presence or absence of Restless Leg Syndrome symptoms.
日付
最終確認済み: | 06/30/2016 |
最初に提出された: | 09/24/2013 |
提出された推定登録数: | 10/16/2013 |
最初の投稿: | 10/21/2013 |
最終更新が送信されました: | 07/24/2016 |
最終更新日: | 07/25/2016 |
実際の研究開始日: | 06/30/2013 |
一次完了予定日: | 06/30/2016 |
研究完了予定日: | 06/30/2016 |
状態または病気
段階
アームグループ
腕 | 介入/治療 |
---|---|
Neuronal ceroid lipofuscinosis patients Caregiver of patient with NCL to provide information regarding patient's sleep habits |
適格基準
研究に適格な性別 | All |
サンプリング方法 | Non-Probability Sample |
健康なボランティアを受け入れる | はい |
基準 | Inclusion Criteria: - patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis (NCL) by DNA or electron microscopy studies Family member completing study must be able to read and understand the Children's Sleep Habits Questionnaire (CSHQ) and Demographic questions Exclusion Criteria: - patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires |
結果
主な結果の測定
1. Sleep disturbance [one year]
二次的な結果の測定
1. Epilepsy onset [one year]
2. Blindness [one year]